NOD2/CARD15 Gene Polymorphisms in Crohn’s Disease: A Genotype-Phenotype Analysis in Danish and Portuguese Patients and Controls
| العنوان: | NOD2/CARD15 Gene Polymorphisms in Crohn’s Disease: A Genotype-Phenotype Analysis in Danish and Portuguese Patients and Controls |
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| المؤلفون: | Ana Isabel Vieira, Paal Skytt Andersen, Henning Locht, Joao Freitas, Ida Vind, Estela Monteiro, Ib Jarle Christensen, Lourdes Tavares, Lene Riis, Pia Munkholm, Lotte Hougs |
| المصدر: | Digestion. 72:156-163 |
| بيانات النشر: | S. Karger AG, 2005. |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | Adult, Male, Genotype, Denmark, Nod2 Signaling Adaptor Protein, Disease, Biology, Polymerase Chain Reaction, Inflammatory bowel disease, Danish, Crohn Disease, Gene Frequency, NOD2, medicine, Humans, Genetic Predisposition to Disease, Gene, Crohn's disease, Chi-Square Distribution, Polymorphism, Genetic, Portugal, Incidence, Incidence (epidemiology), Intracellular Signaling Peptides and Proteins, Gastroenterology, Middle Aged, medicine.disease, language.human_language, Phenotype, Mutation, Immunology, language, Female, Portuguese |
| الوصف: | Background: A North-South gradient in Crohn’s disease (CD) implying a higher incidence in northern Europe compared to southern Europe has been established. Aims: To investigate whether there is a difference between Denmark and Portugal in the frequency of CARD15 mutations in CD patients compared to a healthy background population and to compare genotype-phenotype relations in the two countries. Methods: 58 Danish patients and 29 Portuguese patients with CD were matched for age, sex and disease behaviour at time of diagnosis and compared with 200 healthy Danish and Portuguese controls. Phenotypes were recorded at year of diagnosis, 3 years after diagnosis and at end of follow-up. Patients were genotyped for Arg702Trp, Gly908Arg and Leu1007InsC. Results: 22% of the Danish patients vs. 9% of Danish controls compared to 21% of the Portuguese patients vs. 16% had at least one mutation. Mutation rates in Danish patients were significantly different (p = 0.02) compared with Danish controls, no difference (p = 0.51) was found between Portuguese patients and controls. However, a possible relationship between CD and presence of genetic mutations was found when comparing the two countries (p = 0.03) using the Mantel-Haenszel test. No difference in evolution of phenotypes and the CARD15 status in CD was found during follow-up between the two matched populations. Ileal disease correlated to high occurrence of CARD15. Conclusion: No North-South gradient regarding occurrence of CARD15 was revealed. Although a trend towards more mutations in the Portuguese controls was seen, a relationship between CD and CARD15 mutations was observed in both countries. |
| تدمد: | 1421-9867 0012-2823 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9486fa85825fb62aac42a047898264 https://doi.org/10.1159/000088371 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....0e9486fa85825fb62aac42a047898264 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14219867 00122823 |
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